Sperm Donor with Serious Genetic Issues- The need for genetic testing of donors.

From Today’s Journal of the American Medical Association:

“Implications of Hypertrophic Cardiomyopathy Transmitted by Sperm Donation” JAMA, 10/21/09, Vol. 302, Number 15, p. 1681-1704, including commentary

A donor who had no knowledge of of underlying heart disease, donated to a sperm bank over a 2 year period from 1990 to 1991. In 1995 he was diagnosed with HCM (a disease of the muscle of the heart in which a portion of the myocardium is hypertrophied (thickened) without any obvious cause. It is perhaps most famous as a leading cause of sudden cardiac death in young athletes. The occurrence of hypertrophic cardiomyopathy is a significant cause of sudden unexpected cardiac death in any age group and as a cause of disabling cardiac symptoms. – Wikipedia)  Nine of his twenty four (twenty two donor kids, two with his wife) children have been identified as having HCM (eight of the donor children and one of those produced with his wife).

One child died at age two due to heart failure, two others have extreme left ventricular hypertrophy at age 15 years and are judged to be likely to be at an increased risk for sudden death.

From the article:

“While the US Food and Drug Administration (FDA) inspects the operation of the banks and screening procedures for donors, this process has been directed primarily toward the prevention of infectious diseases, with little attention to the potential transmission of genetic diseases.”

“This case underscores the potential risk for transmission of inherited cardiovascular diseases through voluntary sperm donation, a problem largely unappreciated by the medical community and agencies regulating tissue donation.”  The article goes on to say, “We are aware of only one other documented instance in which a genetic disease was transmitted to an offspring by sperm donation”.

These are some of the medical and genetic issues that have been reported on the DSR:  Ectodermal Dysplasia, Autism, Aspergers, Von Wilberands (blood disease), MCAD (genetic disorder requiring both parents to be carriers), Type I Diabetes, Albinism, heart murmur, hypertrophic cardiomyopathy, Marfan’s Syndrome, PHACES Syndrome,  Dwane Syndrome, Kiddney Disease,  Hemoglobin D, Metabolic Genetic Disorder, Complex Congenital Heart Defect, Tourettes, Hypophosphatasia, Williams Syndrome, Mitral Valve Stenosis, CHD, VUR, PKU, Tay Sacks, Atrial Septal Defect,  HLH, Hypospadias, Karatosis Pilaris, Ebsteins Anolomy, ASD, Van Der Woude Syndrome, Seizure Disorder, Horseshoe Kidney, Imperforated Anus, Hole in Heart, Cyctic Fibrosis, Spinal Muscular Atrophy, Amniotic Band Syndrome, Polycystic Kidney Disease, Congenital Heart Disease, Hydrocephalus, Zellweger Syndrome, Leukemia, Renal Disease, Severe Congenital Neutropenia, JDM, and Bi-Polar Disease.

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One Response to Sperm Donor with Serious Genetic Issues- The need for genetic testing of donors.

  1. forkergirl says:

    Shocking! My son who will be 21 in early July, so far has none of these issues, but his donor would have donated during the times listed! I know absolutely nothing about the genetics of the donor, but this is information my son needs as he continues to plan his life! Please let me know if I can be of any assistance; I’m glad to help, and very glad to have my son!

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